Fig. 1: Overview of study workflow and key parameters.
a The study’s workflow including embryo biopsy, DNA amplification, library preparation (GBS and WGS), sequencing, analysis, and clinical diagnosis. b study sample inclusion diagram. c library preparation times in hours for GBS and WGS methods. Black outline represents hands-on time per step. d boxplot showing the breadth of coverage for subsampled WGS samples (n = 12 per target coverage) compared to corresponding GBS samples and for 10X WGS samples (n = 84, two-sided Wilcoxon’s rank-sum). e half violin plot, overlayed with boxplot showing depth of coverage for WGAed embryo (MDA) and bulk gDNA samples (BULK) for GBS and WGS. Each data point represents an individual sample (n = 31 for MDA, n = 58 for BULK per method, two-sided Wilcoxon’s rank sum). f Mendelian inconsistency rate for 10X embryo samples (n = 31 per method, two-sided Wilcoxon’s rank sum). g genome-wide haplotype concordance of WGS with GBS indicated per parent (maternal, n = 23; paternal, n = 25). In all boxplots the horizontal lines of the boxplot represent the 25th percentile, median and 75th percentile. The whiskers extend to 1.5 * IQR. Source Data are provided as a Source Data file. GBS: genotyping-by-sequencing; WGS: whole genome sequencing; IQR: interquartile range; WGAed: whole genome amplified; MDA: multiple discplacement amplification. Source data are provided as a Source Data file.
